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Identification of two new recessive MC1R alleles in red‐coloured Evolèner cattle and other breeds
Author(s) -
Hauser Miriam,
SignerHasler Heidi,
Küttel Luzia,
Capitan Aurélien,
Guldbrandtsen Bernt,
Hinrichs Dirk,
Flury Christine,
Seefried Franz R.,
Drögemüller Cord
Publication year - 2022
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/age.13206
Subject(s) - biology , allele , identification (biology) , genetics , gene , botany
Sequence variations in the melanocortin‐1 receptor ( MC1R ) gene are associated with melanism in different animal species. Six functionally relevant alleles have been described in cattle to date. In a hypothesis‐free approach we performed a genome‐wide allelic association study with black, red and wild‐coloured cattle of three Alpine cattle breeds (Eringer, Evolèner and Valdostana), revealing a single significant association signal close to the MC1R gene. We searched for candidate causative variants by sequencing the entire coding sequence and identified two novel protein‐changing variants. We propose designating the mutant alleles at MC1R :c.424C>T as e v1 and at MC1R :c.263G>A as e v2 . Both affect conserved amino acid residues in functionally important transmembrane domains (p.Arg142Cys and p.Ser88Asn). Both alleles segregate predominantly in the Swiss Evolèner breed. They occur in other European cattle breeds such as Abondance and Rotes Höhenvieh as well. We observed almost perfect association between the MC1R genotypes and the coat colour phenotype in a cohort of 513 black, red and wild‐coloured cattle. Animals carrying two copies of MC1R loss‐of‐function alleles or that were compound heterozygous for e , e v1 , or e v2 have a red to dark red (chestnut‐like red) coat colour. These findings expand the spectrum of causal MC1R variants causing recessive red in cattle.